Do MTHFR Gene Mutations Affect Your Folate and Vitamin B12?

The empowerdX MTHFR Gene Test looks at two different single nucleotide polymorphisms or SNPs (“snips”) for the MTHFR (methylenetetrahydrofolate reductase) gene – the 677 and the 1298. A change in the DNA sequence may be referred to as a gene mutation or gene variant.


MTHFR Genotype

Your MTHFR genotype is the set of genes in your DNA that tells your body how to make the MTHFR enzyme. This enzyme is responsible for a process called methylation. The activity of this enzyme includes changing folate (vitamin B9) into its active form called L-methylfolate. Your inherited genotype for the 677 and 1298 SNPs came from your parents. There are three possible genotype results for 677, and three possible genotype results for 1298, as seen in the image below. You received one result for each SNP.


How Does MTHFR Affect Folate Metabolism?

Folate comes from natural foods and folic acid comes from supplements, but they are really the same for practical purposes. MTHFR enzyme activity converts folate (or folic acid) to L-methylfolate. This process is sometimes referred to as folate metabolism or folate methylation. Your MTHFR gene variation influences your MTHFR enzyme activity. Your ability to change folate to L-methylfolate can be affected and significantly limited by your enzyme activity based on which gene variants you carry.


Should You Test Vitamin Levels?

Adequate folate serum levels are required to convert enough L-methylfolate for your body. Low levels of folate are associated with fatigue, pale skin, depressed mood, irritability, mouth sores, headaches, difficulty concentrating, and vitamin deficiency anemia.

Studies have shown an association between MTHFR and vitamin B12 deficiency [2,3]. Low levels of vitamin B12 are associated with weakness, fatigue, depressed mood, irritability, anemia, numbness or tingling of hands or feet, and difficulty concentrating. With a simple home vitamin test, you can find out your B12 and folate levels.

Talk With Your Doctor

It's important to discuss your MTHFR results with your doctor. Blood vitamin levels provide information about dietary and supplement intake, but they do not indicate whether the vitamins are in their active forms. Additionally, they do not convey information about the functional outcome of their use by the body. Your doctor can use MTHFR genetic testing to make informed decisions regarding supplement selection in order to functionally improve your body’s health.

If you don't know your MTHFR status, start your journey today!


[1] Boris, Marvin, et al. “Association of MTHFR Gene Variants with Autism.” Journal of American Physicians and Surgeons, vol. 9, no. 4, 2004, pp. 106–108.
[2] Zittan, E., et al. “High Frequency of Vitamin B12 Deficiency in Asymptomatic Individuals Homozygous to MTHFR C677T Mutation Is Associated with Endothelial Dysfunction and Homocysteinemia.” American Journal of Physiology-Heart and Circulatory Physiology, 1 July 2007,
[3] Shiran, Avinoam, et al. “Association of Vitamin B12 Deficiency with Homozygosity of the TT MTHFR C677T Genotype, Hyperhomocysteinemia, and Endothelial Cell Dysfunction.” The Israel Medical Association Journal, vol. 17, no. 5, May 2015, pp. 288–292.